NGLY1 deficiency - clinical features and therapeutic strategy.
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| Title: | NGLY1 deficiency - clinical features and therapeutic strategy. |
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| Authors: | Fujihira H; Glycometabolic Biochemistry Laboratory, Pioneering Research Institute, RIKEN, Wako, Saitama, Japan. haruhiko.fujihira@riken.jp.; Division of Glycobiologics, Juntendo University Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan. haruhiko.fujihira@riken.jp., Hirayama H; Glycometabolic Biochemistry Laboratory, Pioneering Research Institute, RIKEN, Wako, Saitama, Japan.; Institute for Glyco-Core Research (iGCORE), Gifu University, Yanagido, Gifu, Japan., Suzuki T; Glycometabolic Biochemistry Laboratory, Pioneering Research Institute, RIKEN, Wako, Saitama, Japan. tsuzuki_gm@riken.jp. |
| Source: | Journal of human genetics [J Hum Genet] 2025 Jul 29. Date of Electronic Publication: 2025 Jul 29. |
| Publication Type: | Journal Article; Review |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1435-232X |
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| DOI: | 10.1038/s10038-025-01376-4 |
